| 释义 |
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{{Infobox_gene}}DNA-(apurinic or apyrimidinic site) lyase is an enzyme that in humans is encoded by the APEX1 gene. Apurinic/apyrimidinic (AP) sites (also called "abasic sites") occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication. All cells, from simple prokaryotes to humans, have evolved systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site, thereby initiating a process known as base excision repair (BER). The APEX gene (alternatively named APE1, HAP1, APEN) encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.[1] InteractionsAPEX1 has been shown to interact with MUTYH,[2] Flap structure-specific endonuclease 1[3] and XRCC1.[4] References1. ^{{cite web | title = Entrez Gene: APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=328| accessdate = }}
2. ^{{cite journal |last=Parker |first=A |authorlink= |author2=Gu Y |author3=Mahoney W |author4=Lee S H |author5=Singh K K |author6=Lu A L |date=February 2001 |title=Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair |journal=J. Biol. Chem. |volume=276 |issue=8 |pages=5547–55 |publisher= |location = United States| issn = 0021-9258| pmid = 11092888 |doi = 10.1074/jbc.M008463200 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}
3. ^{{cite journal |last=Dianova |first=I I |authorlink= |author2=Bohr V A |author3=Dianov G L |date=October 2001 |title=Interaction of human AP endonuclease 1 with flap endonuclease 1 and proliferating cell nuclear antigen involved in long-patch base excision repair |journal=Biochemistry |volume=40 |issue=42 |pages=12639–44 |publisher= |location = United States| issn = 0006-2960| pmid = 11601988 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1021/bi011117i }}
4. ^{{cite journal |last=Vidal |first=A E |authorlink= |author2=Boiteux S |author3=Hickson I D |author4=Radicella J P |date=November 2001 |title=XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interactions |journal=EMBO J. |volume=20 |issue=22 |pages=6530–9 |publisher= |location = England| issn = 0261-4189| pmid = 11707423 |doi = 10.1093/emboj/20.22.6530 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=125722 }}
Further reading{{Refbegin | 2}}- {{cite journal |vauthors=Mol CD, Hosfield DJ, Tainer JA |title=Abasic site recognition by two apurinic/apyrimidinic endonuclease families in DNA base excision repair: the 3' ends justify the means. |journal=Mutat. Res. |volume=460 |issue= 3–4 |pages= 211–29 |year= 2000 |pmid= 10946230 |doi= 10.1016/s0921-8777(00)00028-8}}
- {{cite journal | author=Fritz G |title=Human APE/Ref-1 protein |journal=Int. J. Biochem. Cell Biol. |volume=32 |issue= 9 |pages= 925–9 |year= 2000 |pmid= 11084372 |doi=10.1016/S1357-2725(00)00045-5 }}
- {{cite journal |vauthors=Fritz G, Grösch S, Tomicic M, Kaina B |title=APE/Ref-1 and the mammalian response to genotoxic stress |journal=Toxicology |volume=193 |issue= 1–2 |pages= 67–78 |year= 2003 |pmid= 14599768 |doi=10.1016/S0300-483X(03)00290-7 }}
- {{cite journal |vauthors=Tell G, Damante G, Caldwell D, Kelley MR |title=The intracellular localization of APE1/Ref-1: more than a passive phenomenon? |journal=Antioxid. Redox Signal. |volume=7 |issue= 3–4 |pages= 367–84 |year= 2005 |pmid= 15706084 |doi= 10.1089/ars.2005.7.367 }}
- {{cite journal |vauthors=Hung RJ, Hall J, Brennan P, Boffetta P |title=Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review |journal=Am. J. Epidemiol. |volume=162 |issue= 10 |pages= 925–42 |year= 2006 |pmid= 16221808 |doi= 10.1093/aje/kwi318 }}
- {{cite journal |vauthors=Dyrkheeva NS, Khodyreva SN, Lavrik OI |title=[Multifunctional human apurinic/apyrimidinic endonuclease 1: the role of additional functions] |journal=Mol. Biol. (Mosk.) |volume=41 |issue= 3 |pages= 450–66 |year= 2007 |pmid= 17685223 |doi= }}
- {{cite journal |vauthors=Harrison L, Ascione G, Menninger JC |title=Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12) |journal=Hum. Mol. Genet. |volume=1 |issue= 9 |pages= 677–80 |year= 1993 |pmid= 1284593 |doi=10.1093/hmg/1.9.677 |display-authors=etal}}
- {{cite journal |vauthors=Cheng XB, Bunville J, Patterson TA |title=Nucleotide sequence of a cDNA for an apurinic/apyrimidinic endonuclease from HeLa cells |journal=Nucleic Acids Res. |volume=20 |issue= 2 |pages= 370 |year= 1992 |pmid= 1371347 |doi=10.1093/nar/20.2.370 | pmc=310384 }}
- {{cite journal |vauthors=Xanthoudakis S, Miao G, Wang F |title=Redox activation of Fos-Jun DNA binding activity is mediated by a DNA repair enzyme |journal=EMBO J. |volume=11 |issue= 9 |pages= 3323–35 |year= 1992 |pmid= 1380454 |doi= | pmc=556867 |display-authors=etal}}
- {{cite journal |vauthors=Zhao B, Grandy DK, Hagerup JM |title=The human gene for apurinic/apyrimidinic endonuclease (HAP1): sequence and localization to chromosome 14 band q12 |journal=Nucleic Acids Res. |volume=20 |issue= 15 |pages= 4097–8 |year= 1992 |pmid= 1380694 |doi=10.1093/nar/20.15.4097 | pmc=334100 |display-authors=etal}}
- {{cite journal |vauthors=Robson CN, Hochhauser D, Craig R |title=Structure of the human DNA repair gene HAP1 and its localisation to chromosome 14q 11.2-12 |journal=Nucleic Acids Res. |volume=20 |issue= 17 |pages= 4417–21 |year= 1992 |pmid= 1383925 |doi=10.1093/nar/20.17.4417 | pmc=334166 |display-authors=etal}}
- {{cite journal |vauthors=Seki S, Hatsushika M, Watanabe S |title=cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III |journal=Biochim. Biophys. Acta |volume=1131 |issue= 3 |pages= 287–99 |year= 1992 |pmid= 1627644 |doi= 10.1016/0167-4781(92)90027-w|display-authors=etal}}
- {{cite journal |vauthors=Robson CN, Hickson ID |title=Isolation of cDNA clones encoding a human apurinic/apyrimidinic endonuclease that corrects DNA repair and mutagenesis defects in E. coli xth (exonuclease III) mutants |journal=Nucleic Acids Res. |volume=19 |issue= 20 |pages= 5519–23 |year= 1991 |pmid= 1719477 |doi=10.1093/nar/19.20.5519 | pmc=328951 }}
- {{cite journal |vauthors=Demple B, Herman T, Chen DS |title=Cloning and expression of APE, the cDNA encoding the major human apurinic endonuclease: definition of a family of DNA repair enzymes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 24 |pages= 11450–4 |year= 1992 |pmid= 1722334 |doi=10.1073/pnas.88.24.11450 | pmc=53153 |bibcode=1991PNAS...8811450D }}
- {{cite journal |vauthors=Okazaki T, Chung U, Nishishita T |title=A redox factor protein, ref1, is involved in negative gene regulation by extracellular calcium |journal=J. Biol. Chem. |volume=269 |issue= 45 |pages= 27855–62 |year= 1994 |pmid= 7961715 |doi= |display-authors=etal}}
- {{cite journal |vauthors=Akiyama K, Seki S, Oshida T, Yoshida MC |title=Structure, promoter analysis and chromosomal assignment of the human APEX gene |journal=Biochim. Biophys. Acta |volume=1219 |issue= 1 |pages= 15–25 |year= 1994 |pmid= 8086453 |doi= 10.1016/0167-4781(94)90241-0}}
- {{cite journal |vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
- {{cite journal |vauthors=Chung U, Igarashi T, Nishishita T |title=The interaction between Ku antigen and REF1 protein mediates negative gene regulation by extracellular calcium |journal=J. Biol. Chem. |volume=271 |issue= 15 |pages= 8593–8 |year= 1996 |pmid= 8621488 |doi=10.1074/jbc.271.15.8593 |display-authors=etal}}
- {{cite journal |vauthors=Rothwell DG, Hickson ID |title=Asparagine 212 is essential for abasic site recognition by the human DNA repair endonuclease HAP1 |journal=Nucleic Acids Res. |volume=24 |issue= 21 |pages= 4217–21 |year= 1996 |pmid= 8932375 |doi=10.1093/nar/24.21.4217 | pmc=146231 }}
- {{cite journal |vauthors=Izumi T, Henner WD, Mitra S |title=Negative regulation of the major human AP-endonuclease, a multifunctional protein |journal=Biochemistry |volume=35 |issue= 47 |pages= 14679–83 |year= 1997 |pmid= 8942627 |doi= 10.1021/bi961995u }}
{{Refend}}External links{{PDB Gallery|geneid=328}}{{Gene-14-stub}} |